Publications by Dr Elise Glen - ePrints

Newcastle Authors	Title	Year
Dr Ana Topf Dr Helen Griffin Dr Elise Glen Rachel Soemedi Dr Danielle Brown et al.	Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot	2014
Dr Elise Glen Dr Ana Topf Professor Judith Goodship	A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti	2013
Professor Judith Goodship Dr Darroch Hall Dr Ana Topf Valentina Mamasoula Dr Helen Griffin et al.	A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot	2012
Dr Elise Glen Dr Ana Topf Dr Darroch Hall Dr John O'Sullivan Linda Sneddon et al.	Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation	2012
Rachel Soemedi Dr Ana Topf Dr Ian Wilson Dr Rebecca Darlay Dr Thahira Rahman et al.	Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls	2012
Dr Elise Glen Dr Ana Topf Dr Darroch Hall Dr John O'Sullivan Linda Sneddon et al.	Non-synonymous SMAD6 mutations impaired inhibition of BMP signalling in patients with congenital cardiovascular malformation	2011
Dr Helen Griffin Dr Ana Topf Dr Elise Glen Dr John O'Sullivan Professor Sir John Burn et al.	Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants	2010